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Article

A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.

European journal of medical genetics - 1 Apr 2017

Courtois Audrey, Coppieters Wouter, Bours Vincent, Defraigne Jean-Olivier, Colige Alain, Sakalihasan Natzi

Abstract excerpt

Heterozygous mutations in the SMAD3 gene were recently described as the cause of a form of non-syndromic familial aortic thoracic aneurysm and dissection (FTAAD) transmitted as an autosomal dominant disorder and often associated with early-onset osteoarthritis. This new clinical entity, called aneurysms-osteoarthritis syndrome (AOS) or Loeys-Dietz syndrome 3 (LDS3), is characterized by aggressive arterial damages...

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Source

Identifiers

PMID: 28185953
DOI: 10.1016/j.ejmg.2017.02.001

Genes

SMAD3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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